An 11-year-old girl was admitted with a history of bluish discoloration of the fingers of both hands for the past 1½ months. Initially, discoloration was in the index, middle, and ring finger of distal phalanx of both hands in a patchy manner, which gradually progressed to involve the entire distal phalanx and other fingers of both the hands and was associated with pain. On further inquiry, she experienced deepening of discoloration after exposure to cold environment and also had a history of difficulty in holding a pen while writing.
She had no history of joint pain/swelling, rash, bleeding diathesis, cardiac complaints, or tingling and numbness in the limbs. There was no history of insect bite/local repeated trauma, drug exposure, use of naphthalene balls, recent vaccination, blood transfusion, and exposure to environmental toxins. Her past history and birth history were not significant. She had not achieved menarche. Her maternal grandfather died because of myocardial infarction, maternal grandmother is a diagnosed case of rheumatoid arthritis, and her mother also has history of joint pain and swelling.
On examination, her vitals were stable with oxygen saturation of at room air. All the peripheral pulses were well felt and blood pressure was within normal limit for age. Her growth and development were normal, and Tanner staging was prepubertal. There were no signs of vitamin deficiency, petechiae/purpura, malar rash, joint swelling, and cafe-au lait spots.
There were no signs suggestive of scleroderma, Sjogren's syndrome, or lupus erythematosus. Systemic examination and ophthalmic examination were normal. Local examination revealed cold palms and bluish discoloration of the distal phalanges of all digits, and minimal discoloration of toes of both feet this discoloration were more marked on exposure to cold.
Laboratory analysis at the time of admission showed hemoglobin 11.1 gm%, white blood cell count 11,100/mm3, and platelet 297,000/mm3 with granulocyte count 76.9% without band cells. The erythrocyte sedimentation rate was 43 at the end of 1st hour with C-reactive protein and tuberculin test being negative. Her liver, kidney, and thyroid functions were within normal limit. Coagulation profile, lipid profile, and D-dimer assay were normal with an International Normalized Ratio of 0.8. Serum calcium, phosphorus, uric acid, sodium, and potassium were within normal limits. Cold agglutinin antibody test, Australia antigen, hepatitis C as well as HIV serology were all negative.
Antinuclear antibody (ANA) titer was 1:100 by indirect immunofluorescence assay, but anti-dsDNA antibody, phospholipid antibody, anti-Smith antibody, and rheumatoid factor were negative. Chest radiography, ultrasound abdomen, two-dimensional echocardiography, and Doppler study of the upper and lower limbs did not detect any abnormality. Nail-fold capillaroscopy could not be performed due to unavailability of instrument in our institute.
On the basis of clinical presentation and laboratory evidence, a diagnosis of RP was made and calcium channel blocker (nifedipine - 1mg/kg/day in two divided doses i.e. 15 mg two times a day) was started. Digital color changes gradually decreased, and she was discharged with counselling about protection from cold environment. She was on monthly follow-up initially and later on every 3 monthly. After follow-up of 1 year, she had no signs of systemic illness.